Localization of delivered AGAT and GAMT in CT1 mutant (<i>SLC6A8</i><sup><i>W556X/y</i></sup>) fibroblasts.

Localization of delivered AGAT and GAMT in CT1 mutant (<i>SLC6A8</i><sup><i>W556X/y</i></sup>) fibroblasts.

<p>IF of a second line of CT1 loss-of-function patient fibroblasts stably expressing AGAT + GAMT and empty vector infected controls imaged at 63x magnification. N = 4. Scale bars indicate 10 µm.</p>

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Bibliographic Details
Main Author:	Chloe Wells (17231887) (author)
Other Authors:	Jon Sorgenfrei (21273708) (author), Sadie L. Johnson (21273711) (author), Devin Albertson (21273714) (author), Jared Rutter (2128906) (author), Steven Andrew Baker (10150952) (author)
Published:	2025
Subjects:	Biochemistry Medicine Cell Biology Genetics Molecular Biology Mental Health target cell types natural cellular compartment highly energetic tissues critical metabolite used affected individuals suffer creatine uptake relies creatine transporter 1 healthy control fibroblasts endogenous creatine synthesis div >< p intracellular creatine concentrations intracellular synthesis transport creatine primary fibroblasts patient fibroblasts intracellular concentration slc6a8 </ selectively expressed protein product proper targeting phenotypes referred linked gene like behaviors intellectual disability hek293t cells genetic defects gene therapy gatm </ function mutations far exceeding effective therapies common set common form
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